Chediak-Higashi syndrome

Chediak-Higashi syndrome is a rare, autosomal recessive genetic disorder in which a lysosomal trafficking regulator protein mutation leads to a decrease in phagocytosis. This predisposes individuals to recurrent pyogenic infections. People with Chediak-Higashi syndrome also have partial albinism and peripheral neuropathy. They can present with light skin color and hair that is blond, golden brown, or white. Other symptoms include poor vision and hearing, easy bruising and bleeding, and a heightened sensitivity to cold.